発端者遺伝情報が得られないまま未発症者の遺伝学的検査を行ったLynch症候群の1例

寺本 瑞絵; 鷹巣 祐子; 柏木 葉月; 寺田 倫子; 松浦 基樹; 山下 健太郎; 沖田 憲司; 石川 亜貴; 斎藤 豪; 櫻井 晃洋

doi:10.18976/jsft.18.1_1

Presymptomatic diagnosis for Lynch syndrome without proband genetic information: a case report

Mizue Teramoto , Yuko Takasu, Hazuki Kashiwagi, Noriko Terada, Motoki Matsuura, Kentarou Yamashita, Kenji Okita, Aki Ishikawa, Tsuyoshi Saito, Akihiro Sakurai

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Mizue Teramoto Corresponding author
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine
Yuko Takasu
Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine
Hazuki Kashiwagi
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine
Noriko Terada
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine
Motoki Matsuura
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine
Kentarou Yamashita
Department of Medical Genetics, Liberal Arts and Science, Sapporo Medical University School of Medicine
Kenji Okita
Department of Surgery, Surgical Oncology and Science, Sapporo Medical University School of Medicine
Aki Ishikawa
Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine
Tsuyoshi Saito
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine
Akihiro Sakurai
Department of Obstetrics and Gynecology, Sapporo Medical University School of Medicine

Keywords: Lynch syndrome, EPCAM gene, presymptomatic genetic testing

JOURNAL OPEN ACCESS

2018 Volume 18 Issue 1 Pages 1-7

DOI https://doi.org/10.18976/jsft.18.1_1

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Abstract

Lynch syndrome is caused by germline mutations in the mismatch-repair genes， which increase the risk of certain cancers. The MSH2， MLH1， MSH6， and PMS2 genes are known as causative genes， and deletions of the epithelial cell adhesion molecule (EPCAM) gene located upstream from the MSH2 gene can also cause this syndrome. We report a client who was highly suspected of having Lynch syndrome from her family history and received a presymptomatic genetic testing without any proband genetic information because of no survivors with cancer in her family.

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